Canonical Allele Identifier: CA606209322

Gene: PTPRQ

Linked Data

• dbSNP Id: rs1384354321
• gnomAD v2: 12-80878415-AC-A
• gnomAD v4: 12-80484636-AC-A
• MyVariant Identifiers: chr12:g.80878416del (hg19) ; chr12:g.80484637del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80484639del , CM000674.2:g.80484639del	GRCh38
NC_000012.11:g.80878418del , CM000674.1:g.80878418del	GRCh37
NC_000012.10:g.79402549del	NCBI36
NG_034052.1:g.45294del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644991.3:c.1359+34del MANE Select	ENSP00000495607.1:n.1359+34del
ENST00000614701.4:c.1359+34del	ENSP00000482885.1:n.1359+34del
ENST00000616559.4:c.1485+34del	ENSP00000483259.1:n.1485+34del
NM_001145026.1:c.1359+34del	NP_001138498.1:n.1359+34del
XM_011538290.1:c.1359+34del	XP_011536592.1:n.1359+34del
XM_017019273.1:c.2025+34del	XP_016874762.1:n.2025+34del
XM_017019274.1:c.2025+34del	XP_016874763.1:n.2025+34del
XM_017019275.1:c.2025+34del	XP_016874764.1:n.2025+34del
XR_001748688.1:n.2162+34del
XR_001748689.1:n.2162+34del
NM_001145026.2:c.1359+34del MANE Select	NP_001138498.1:n.1359+34del